A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120488



Internal ID19280234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99862751..99862831hg38UCSC Ensembl
Outerchr4:100783908..100783988hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2865n106
Supporting Variantsnssv3962088
SamplesKWS1
Known GenesDAPP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120488
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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